| Metadata | |
|---|---|
| ID | DOID:0111502 |
| Name | combined oxidative phosphorylation deficiency 6 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. https://www.ncbi.nlm.nih.gov/pubmed/20362274 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD6 [EXACT] Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 [EXACT] Mitochondrial encephalomyopathy due to COXPD6 [EXACT] severe X-linked mitochondrial encephalomyopathy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |